ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.39G>A (p.Ala13=)

gnomAD frequency: 0.00006  dbSNP: rs773457837
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173531 SCV000224653 uncertain significance not provided 2014-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000173531 SCV001092189 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955012 SCV004768823 likely benign FRAS1-related disorder 2019-03-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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